Variant report

Variant	rs9333391
Chromosome Location	chr1:165603969-165603970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1590578	1.00[EUR][1000 genomes]
rs16846009	1.00[EUR][1000 genomes]
rs16846680	1.00[EUR][1000 genomes]
rs1981167	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4290038	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333367	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333376	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9333389	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9333393	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333394	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333397	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333405	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9333414	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333417	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333418	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333419	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333424	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333425	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333426	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333427	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333428	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333429	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333430	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333431	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333434	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333435	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333437	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9333453	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9333472	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548090	chr1:165602524-165604991	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv548091	chr1:165603289-165604124	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv548092	chr1:165603289-165604240	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv15720	chr1:165603563-165604448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv548093	chr1:165603660-165604189	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv548094	chr1:165603660-165604240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv548095	chr1:165603672-165604240	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
8	nsv548096	chr1:165603866-165604789	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165601400-165604400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:165601600-165604400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
6	chr1:165601800-165607400	Enhancers	Brain Substantia Nigra	brain
7	chr1:165601800-165615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:165602000-165604200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:165602000-165604400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:165602000-165605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:165602000-165622800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:165602200-165604000	Enhancers	K562	blood
13	chr1:165602200-165604000	Flanking Active TSS	NHDF-Ad	bronchial
14	chr1:165602200-165604600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:165602200-165604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:165602200-165604800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:165602200-165605000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:165602200-165605200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:165602200-165606000	Enhancers	Brain Anterior Caudate	brain
20	chr1:165602200-165624200	Weak transcription	Dnd41	blood
21	chr1:165602400-165604000	Enhancers	Fetal Brain Female	brain
22	chr1:165602400-165604200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:165602400-165604600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:165602400-165604600	Enhancers	GM12878-XiMat	blood
25	chr1:165602400-165604800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:165602400-165605200	Enhancers	Fetal Lung	lung
27	chr1:165602400-165606000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:165602400-165606800	Enhancers	Brain Angular Gyrus	brain
29	chr1:165602400-165614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:165602400-165614800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:165602400-165615000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:165602600-165604200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:165602600-165604200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:165602600-165604200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:165602600-165604200	Enhancers	Brain Hippocampus Middle	brain
36	chr1:165602600-165604800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:165602600-165605000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:165602600-165605200	Enhancers	A549	lung
39	chr1:165602600-165605400	Weak transcription	Fetal Stomach	stomach
40	chr1:165602600-165605400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:165602600-165605800	Enhancers	Right Ventricle	heart
42	chr1:165602600-165606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:165602600-165606200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:165602600-165606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:165602600-165606600	Weak transcription	HepG2	liver
46	chr1:165602600-165610400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:165602600-165615000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:165602800-165604200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:165602800-165604800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:165603000-165604200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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